Publications by authors named "E Marchionni"
Article Synopsis
- * Understanding inherited traits is essential for making decisions regarding allogeneic hematopoietic cell transplants (allo-HCT) and choosing suitable donors.
- * The case of a 49-year-old woman with JAK2 V617F-positive primary myelofibrosis (PMF) illustrates the significance of genetic findings, including a variant in the SH2B3 gene, in clinical management and genetic counseling for transplant options.
Introduction: The NOTCH3 gene encodes for an evolutionarily conserved protein, whose functions encompass both embryonic cell proliferation and adult tissue-specific differentiation. Among others, a pivotal role in maintaining functional integrity of neurovascular unit (NVU) is supported by the association of several NOTCH3 gene mutations with neuroimaging markers of cerebral small vessel disease (SVD). Indeed, a pathogenic role of NOTCH3 is recognised in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
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- Prenatal exome (pES) and genome (pGS) sequencing provide a higher diagnostic yield for fetal structural anomalies compared to traditional karyotype and chromosomal microarray analysis (CMA).
- A systematic review analyzed 12 studies involving 428 fetuses, highlighting the effectiveness of pES in detecting likely pathogenic single nucleotide variants (SNVs) in central nervous system (CNS) anomalies.
- The findings showed a diagnostic yield of 38% for pES alone and 36% when including pGS, with the highest yield observed in cases with multiple anomalies (46%), demonstrating significant benefits of using genomic sequencing in prenatal diagnostics.
Article Synopsis
- Chromosomal submicroscopic imbalances can cause neurodevelopmental disorders, either leading to autosomal dominant syndromes or acting as risk factors inherited from healthy parents.
- A study followed a family with a 28-month-old boy showing psychomotor delay linked to a novel microduplication on chromosome 19 (19q13.32q13.33), found in multiple family members with neuropsychiatric issues.
- The case stands out due to the small size of the duplication, its presence across three generations, and the complete manifestation of symptoms in affected individuals.
gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies. We aimed to characterize the NM_001844.
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